Canonical Allele Identifier: CA2649130
Gene: ATR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.142458990C>T , CM000665.2:g.142458990C>T GRCh38
NC_000003.11:g.142177832C>T , CM000665.1:g.142177832C>T GRCh37
NC_000003.10:g.143660522C>T NCBI36
NG_008951.1:g.124837G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000350721.9:c.7471G>A MANE Select ENSP00000343741.4:p.Val2491Ile
ENST00000513291.2:n.2655G>A
ENST00000653893.1:n.2329G>A
ENST00000654170.1:n.2314G>A
ENST00000656114.1:n.1355G>A
ENST00000656590.1:c.6261G>A
ENST00000658083.1:n.1312G>A
ENST00000661310.1:c.7279G>A ENSP00000499589.1:p.Val2427Ile
ENST00000665483.1:n.3809G>A
ENST00000666447.1:n.3974G>A
ENST00000666943.1:n.4203G>A
ENST00000350721.8:c.7471G>A ENSP00000343741.4:p.Val2491Ile
ENST00000513291.1:c.1010G>A
NM_001184.3:c.7471G>A NP_001175.2:p.Val2491Ile
XM_011512924.1:c.7477G>A XP_011511226.1:p.Val2493Ile
XM_011512925.1:c.7285G>A XP_011511227.1:p.Val2429Ile
XR_924147.1:n.7566G>A
XR_924148.1:n.7566G>A
NM_001354579.1:c.7279G>A NP_001341508.1:p.Val2427Ile
XR_001740179.2:n.7560G>A
XR_924148.2:n.7566G>A
NM_001184.4:c.7471G>A MANE Select NP_001175.2:p.Val2491Ile
NM_001354579.2:c.7279G>A NP_001341508.1:p.Val2427Ile